HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34789336C= , CM000677.2:g.34789336C= | GRCh38 |
NC_000015.9:g.35081537C= , CM000677.1:g.35081537C= | GRCh37 |
NC_000015.8:g.32868829C= | NCBI36 |
NG_007553.1:g.11391G= , LRG_388:g.11391G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290378.4:c.*1076G= (ACTC1) | ENSP00000290378.4:n.*1076G= | |
NM_005159.4:c.*1076G= , LRG_388t1:c.*1076G= (ACTC1) | NP_005150.1:n.*1076G= | |
NR_120329.1:n.299+11905C= (GJD2-DT) |